Natural History of Aromatic L-Amino Acid Decarboxylase Deficiency in Taiwan
Natural History of Aromatic L-Amino Acid Decarboxylase Deficiency in Taiwan
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DOI：
10.1007/8904_2017_54
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发表时间：
2018-01-01
期刊：
影响因子：
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通讯作者：
Li, Mei-Hsin
中科院分区：
文献类型：
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作者：
Hwu, Wuh-Liang;Chien, Yin-Hsiu;Li, Mei-Hsin
目的：芳香族L-氨基酸脱羧酶（AADC）缺乏症是一种罕见的单胺神经递质合成的遗传性疾病;这种缺乏症导致精神发育迟缓，张力减退，眼球运动危象，张力障碍和神经系统症状。本研究旨在进一步了解AADC缺乏症的临床过程中，在Taiwan.Patients和方法：我们提出了一个回顾性的，描述性的，单中心的研究，37名儿童确诊为AADC缺乏症。对他们的病史进行了审查，包括运动里程碑、运动发育、DDC突变和体重。在这项研究中，每个患者的终止点被定义为没有进一步的后续行动，死亡，或在基因治疗trial.Results招募：在研究结束时的研究患者的中位年龄为4.39岁（1.28-11.30）。在37名患者中，36名患者在从出生到终止点的任何时间点都没有发展完全的头部控制、坐姿能力、站立能力或语言能力。对22例患者进行了运动评分。他们的阿尔伯塔婴儿运动量表得分低于第五百分位数，他们的皮博迪发育运动量表，第二版，得分低于第一百分位数。他们的体重在生命的最初几个月是正常的，但严重的生长迟缓发生在以后的年龄。突变c.714+4A>T（IVS 6 +4A>T）占DDC突变的76%。结论：本章报告台湾地区AADC缺乏症的临床病程。我们的数据将有助于指导该疾病治疗策略的制定。
Objectives: Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare inherited disorder of monoamine neurotransmitter synthesis; this deficiency leads to psychomotor delay, hypotonia, oculogyric crises, dystonia, and extraneurological symptoms. This study aimed to provide further insight into the clinical course of AADC deficiency in Taiwan.Patients and Methods: We present a retrospective, descriptive, single-center study of 37 children with a confirmed diagnosis of AADC deficiency. Their medical histories were reviewed for motor milestones, motor development, DDC mutation, and body weight. The termination point for each patient in this study was defined as no further follow-up, death, or enrollment in a gene therapy trial.Results: The median age of the study patients at the end of the study was 4.39 years (1.28-11.30). Of the 37 patients, 36 did not develop full head control, sitting ability, standing ability, or speech at any time point from birth to the termination points. Motor scales were administered to 22 patients. Their Alberta Infant Motor Scale scores were below the fifth percentile, and their Peabody Developmental Motor Scales, Second Edition, scores were below the first percentile. Their body weights were normal in the first few months of life, but severe growth retardation occurred at later ages. The mutation c.714+4A>T (IVS6+4A>T) accounted for 76% of all their DDC mutations.Conclusion: In this chapter, we report the clinical course of AADC deficiency in Taiwan. Our data will help guide the development of treatment strategies for the disease.